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When searching over associations between congenital ear abnormalities, especially microtia and affiliated deformities like cleft lip or palate and congenital heart diseases, some clinical analysis and genetic theories are found. A 10-year-old boy sent to the plastic surgery hospital was puzzled by a congenital anterior auricular fistula with fluid trace for more than 9 years. The preoperative diagnoses were branchial cleft fistula and congenital left ear deformity with postoperation of TOF. By browsing over studies on genetic concerns and clinical performance, it may be attributed to a possible association between microtia, branchial cleft fistula, and tetralogy of Fallot, though whose fundamental mechanisms remain concerned., Competing Interests: The authors report no conflicts of interest., (Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of Mutaz B. Habal, MD.)

Objective: To evaluate whether early systematic nursing can reduce the occurrence of postoperative nonstructural scoliosis in patients undergoing ear reconstruction., Methods: A total of 136 patients with congenital microtia who underwent ear reconstruction surgery at the Department of Plastic Surgery, Chinese Academy of Medical Sciences from, January 2022 to July 2022 were included as study subjects. They were randomly divided into a routine nursing group and a systematic nursing group. After preoperative and postoperative education, as well as continuous follow-up intervention after surgery, spinal CT three-dimensional imaging examination was performed 6 months later to measure the Cobb angle and observe the occurrence of spinal scoliosis., Results: Compared with the routine nursing group, the incidence and severity of postoperative nonstructural scoliosis were significantly reduced in patients who received systematic nursing., Conclusions: Systematic nursing intervention for patients undergoing ear reconstruction can help prevent the occurrence of postoperative nonstructural scoliosis and has a positive effect on improving patient prognosis. It is worth promoting in clinical treatment., Competing Interests: The authors report no conflicts of interest., (Copyright © 2024 by Mutaz B. Habal, MD.)

The main objective of this study was to investigate the incidence and characteristics of electrocardiographic abnormalities in patients with microtia, and to explore cardiac maldevelopment associated with microtia. This retrospective study analyzed a large cohort of microtia patients admitted to Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, from September 2017 to August 2022. The routine electrocardiographic reports of these patients were reviewed to assess the incidence and characteristics of abnormalities. The study included a total of 10,151 patients (5598 in the microtia group and 4553 in the control group) who were admitted to the Plastic Surgery Hospital of Peking Union Medical College. The microtia group had a significantly higher incidence of abnormal electrocardiographies compared to the control group (18.3% vs. 13.6%, P < 0.01), even when excluding sinus irregularity (6.1% vs. 4.4%, P < 0.01). Among the 1025 cases of abnormal electrocardiographies in the microtia group, 686 cases were reported with simple sinus irregularity. After excluding sinus irregularity as abnormal, the most prevalent abnormalities was right bundle branch block (37.5%), followed by sinus bradycardia (17.4%), ST-T wave abnormalities (13.3%), atrial rhythm (9.1%), sinus tachycardia (8.3%), and ventricular high voltage (4.7%). Less common ECG abnormalities included atrial tachycardia (2.1%), ventricular premature contraction (2.4%), and ectopic atrial rhythm (1.8%). atrioventricular block and junctional rhythm were present in 1.2% and 0.9% of the cases, respectively. Wolff Parkinson White syndrome and dextrocardia had a lower prevalence, at 0.6% and 0.9%, respectively. The occurrence of electrocardiographic abnormalities in microtia patients was found to be higher compared to the control group. These findings highlight the potential congenital defect in cardiac electrophysiology beyond the presence of congenital heart defect that coincide with microtia., (© 2024. The Author(s).)

Background: This study was performed to explore the clinical application of the Nagata's technique for combing tissue expansion in auricular reconstruction., Methods: The auricular reconstruction was performed in two surgical stages. At the first stage, an 80 ml expander was inserted in the mastoid region after preoperative evaluation. After a gradual expansion period and nearly 2-month rest time, the flap achieved the appropriate area and thickness. At the second stage, the expander was removed and a three-layer cartilage framework was inserted into the pocket through a Y-shaped lobule incision, and the earlobe and tragus were rebuild simultaneously., Results: From 2012 to 2016, 104 microtia patients underwent auricular reconstruction with this method in our hospital. Patients were followed up for between 6 months and 2 years. Ninety-six patients and their families were satisfied with the results, especially the clear outline, appropriate color, good projection, and the symmetry of bilateral ears. Complications of ischemic necrosis of the distal earlobe and skin of the concha cavity occurred in two cases, hematoma after the first stage occurred in two cases, and four patients needed further restorations., Conclusions: A novel two-stage strategy combing tissue expansion and Nagata's technique is an effective and efficient technique for auricular reconstruction with satisfying medium-term results., Competing Interests: Declaration of Competing Interest None., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

Summary: Congenital heart disease (CHD) is one of the most common combined malformations of microtia. There is currently no specific study that investigates the relationship between microtia and CHD., Methods: This study collected microtia inpatients admitted from May 1, 2015 to July 31, 2016. The diagnosis of CHD was based on patient's symptoms, past history, and echocardiography. Pearson χ2 test was used to analyze the correlation between CHD and microtia., Results: A total of 30 cases (3.35%) were documented with CHD, including atrial septal defect (12/40.00%), ventricular septal defect (7/23.30%), patent ductus arteriosus (2/6.70%), complex congenital heart disease (3/10.00%), combined CHD (2/6.70%) and other malformations (4/13.30%). Analysis showed no statistically significant relation between CHD and the side of affected ear or gender., Conclusions: The occurrence of CHD in microtia patients was higher than that in the general population. The relationship between them was explored mainly from the etiological perspective. Microtia and CHD were often combined in syndromes such as Goldenhar syndrome, 22q11 deletion syndrome, and CHARGE syndrome. Absence of genes or abnormal embryo development associated with these syndromes leads to the occurrence of both., Competing Interests: The authors report no conflicts of interest., (Copyright © 2020 by Mutaz B. Habal, MD.)

Background: Goldenhar Syndrome (GS) is a systematic polymalformational disease characterized by microtia, hemifacial microsomy, ocular anomalies, abnormal vertebra and other deformities. These congenital malformations brought severe physical and mental stress to the patients. Auricular reconstruction has always been the primary appeal of the patients and their families to achieve a better facial balance and harmony. However, multiple deformities made it a great challenge to perform this technique. In this study, we reported a modified expanded two-flap method of auricular reconstruction, which is more applicable for patients with Goldenhar Syndrome., Methods: Between January of 2012 and September of 2019, 69 cases of Goldenhar Syndrome underwent auricular reconstruction with the modified expanded two-flap technique. Auricular reconstruction was performed in three surgical stages. In the first stage, a 50 ml kidney-shaped tissue expander was embedded in mastoid region and the retroauricular skin expanded. In the second stage, the autologous rib cartilage was harvested and the ear framework fabricated. The expander was further removed, and then enveloped by the expanded flap, retroauricular fascial flap and a free skin graft. In the third stage, the reconstructed ear was further trimmed, including lobule transposition and tragus reconstruction., Results: The patients were followed for 6 months to 7 years. There were 63 cases (91.3%) responded satisfied outcomes in size, shape, position and bilateral symmetry. One case suffered expander leakage and tissue expansion accomplished after the expander was replaced. Hematoma was occurred in four cases and removed to complete the reconstruction. Complications of cartilage exposure were observed in one case., Conclusion: Modified expanded two-flap method is effective and safe in auricular reconstruction for patients of Goldenhar syndrome with long term satisfying results. Level of Evidence IV., (Copyright © 2020. Published by Elsevier B.V.)

Microtia is a spectrum of congenital deformities. Approximately, half of the patients are associated with hemifacial microtia. The birth rate of microtia ranges from 2 per 10,000 to 17.4 per 10,000. Microtia and limb deformities sometimes occurred simultaneously as described in the literature. In this report, the patient was found to be with unilateral microtia combined with bilateral split sole of feet, deformed middle fingers on both hands, and café-au-lait spots on the trunk. Despite a thorough literature search, the authors could not achieve a satisfactory diagnosis for the current case with respect to the type of anomalies seen in the case.

Microtia is a congenital deformity where the external ear is underdeveloped. Genetic investigations have identified many susceptibility genes of microtia-related syndromes. However, no causal genes were reported for isolated microtia, the main form of microtia. We conducted a genome-wide linkage analysis on a 5-generation Chinese pedigree with isolated bilateral microtia. We identified a suggestive linkage locus on 4p15.32-4p16.2 with parametric LOD score of 2.70 and nonparametric linkage score (Zmean) of 12.28 (simulated occurrence per genome scan equal to 0.46 and 0.47, respectively). Haplotype reconstruction analysis of the 4p15.32-4p16.2 region further confined the linkage signal to a 10-Mb segment located between rs12505562 and rs12649803 (9.65-30.24 cM; 5.54-15.58 Mb). Various human organ developmental genes reside in this 10-Mb susceptibility region, such as EVC, EVC2, SLC2A9, NKX3-2, and HMX1. The coding regions of three genes, EVC known for cartilage development and NKX3-2, HMX1 involved in microtia, were selected for sequencing with 5 individuals from the pedigree. Of the 38 identified sequence variants, none segregates along with the disease phenotype. Other genes or DNA sequences of the 10-Mb region warrant for further investigation. In conclusion, we report a susceptibility locus of isolated microtia, and this finding will encourage future studies on the genetic basis of ear deformity.